Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs

Abstract Introduction CREBBP truncating mutations and deletions are responsible for the well‐known Rubinstein‐Taybi syndrome. Recently, a new, distinct CREBBP‐linked syndrome has been described: missense mutations located at the 3′ end of exon 30 and the 5′ portion of exon 31 induce Menke‐Hennekam s...

詳細記述

書誌詳細

出版年:	Molecular Genetics & Genomic Medicine
主要な著者:	Guillaume Cogan, Nicolas Bourgon, Roxana Borghese, Emmanuel Julien, Aurélia Jaquette, Bertrand Stos, Amale Achaiaa, Sophie Chuon, Patrick Nitschke, Cécile Fourrage, Julien Stirnemann, Lucile Boutaud, Tania Attie‐Bitach
フォーマット:	論文
言語:	英語
出版事項:	Wiley 2023-09-01
主題:	fetal anomalies Menke‐Hennekam syndrome molecular genetics CREBBP
オンライン･アクセス:	https://doi.org/10.1002/mgg3.2219